Varaico: Literature-Extracted Genetic Variants

FLG

1,270 papers

RefSeq Summary

The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein prec...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Filaggrinaa 257–306UCSCFilaggrin

Filaggrinaa 373–428UCSCFilaggrin

Filaggrinaa 574–630UCSCFilaggrin

Filaggrinaa 697–753UCSCFilaggrin

Filaggrinaa 899–955UCSCFilaggrin

Gene Aliases

HGNC Name

filaggrin

HGNC Alias Symbols

FLG1; FLG-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002016.2

p.T2633T

c.7899T>G

Surrounding Variants

1 paper

NM_002016.2

p.S2635P

c.7903T>C

1 paper

NM_002016.2

p.Q2625Q

c.7875A>G

4 papers

NM_002016.2

p.S2649fs

c.7945_7946fs

35 papers

NM_002016.2

p.S2649delFs

c.7945delT

1 paper

NM_002016.2

p.S2649fs

c.7945_7946fs

1 paper

NM_002016.2

p.G2617W

c.7849G>T

1 paper

NM_002016.2

p.H2616H

c.7848T>C

5 papers

NM_002016.2

p.E2652D

c.7956A>T

5 papers

NM_002016.2

p.E2652D

c.7956A>C

6 papers

NM_002016.2

p.R2613*

c.7837A>T

3 papers

NM_002016.2

p.D2612G

c.7835A>G

2 papers

NM_002016.2

p.D2601N

c.7801G>A